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Endocrine Abstracts (2019) 63 P864 | DOI: 10.1530/endoabs.63.P864

ECE2019 Poster Presentations Adrenal and Neuroendocrine Tumours 3 (70 abstracts)

X-linked adrenoleukodystrophy phenotype evolution - is family history important?

Tânia Matos 1 , Zulmira Jorge 1 , Cristiana Costa 1 & Sónia do Vale 1,

1Serviço de Endocrinologia, Diabetes e Metabolismo, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, EPE, Lisboa, Portugal; 2Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal.

X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism, characterized by deficient beta-oxidation of saturated very long chain fatty acids (VLCFA). The accumulation of VLCFAs is associated with demyelination of the nervous system, and impairment of steroid hormone synthesis in the adrenal cortex and the testis. The range of phenotypic expression is wide and dynamic. The three presentations most commonly seen are the childhood cerebral forms, adrenomyeloneuropathy (AMN) and the Addison disease only (ADO). We reviewed the cases of eight adult males accompanied at the endocrinology outpatient’s department diagnosed with X-linked adrenoleukodystrophy. The patients belonged to 5 different families, which were identified by numbers from 1 to 5. On family 1, the two patients studied were brothers, currently with 50 and 62 years, both diagnosed at the age of six with an ADO phenotype. Afterwards, by the age of 36 and 38 years, respectively, they both developed AMN. Three of the patients studied belonged to family 2, at the present with 33, 40 and 44 years. All of them presented with ADO at the ages of 13, 14 and 18 years. Only the latter was diagnosed with AMN by the age of 40, despite remaining clinically asymptomatic. Family 3 is represented by a 38-years-old patient, diagnosed with 13 years with ADO, who developed both AMN and cerebral involvement with 29 years. Although he remained clinically stable for several years, he has presented clinical and imaging signs of disease progression for the last 2 years. From his family history, stands out a brother with X-ALD, also with cerebral involvement who died with 33-years-old. On family 4, the patient was diagnosed with 64 years, presenting with both AMN and adrenal insufficiency. Within 11 years, with 75 years, he developed cerebral involvement and died a few months later. Two of his brothers had X-ALD, both with AMN and Addison disease. One of them died after the diagnose of cerebral involvement. Lastly, we describe a patient 28-years-old, representing family 5, diagnosed by the age of 11 years with an ADO phenotype, who hasn’t shown signs of disease progression. There is a family history of X-ALD on a maternal grandfather whom presented with ADO, and developed AMN at 70 years. X-linked adrenoleukodystrophy is characterized by a dynamic phenotypic expression, usually not predicted by family history. Nevertheless, in the patients studied the phenotype evolution appeared to be similar among patients belonging to the same family.

Volume 63

21st European Congress of Endocrinology

Lyon, France
18 May 2019 - 21 May 2019

European Society of Endocrinology 

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